Comprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing
作者: Donavan T. ChengMeera PrasadYvonne ChekalukRyma BenayedJustyna SadowskaAhmet ZehirAijazuddin SyedYan Elsa WangJoshua SomarYirong LiZarina YelskayaDonna WongMark E. RobsonKenneth OffitMichael F. BergerKhedoudja NafaMarc LadanyiLiying Zhang
作者单位: 1Department of Pathology, Memorial Sloan Kettering Cancer Center
2Illumina Inc
3Brigham and Women’s Hospital
4Department of Medicine, Memorial Sloan Kettering Cancer Center
5Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer
刊名: BMC Medical Genomics, 2017, Vol.10 (1)
来源数据库: Springer Nature Journal
DOI: 10.1186/s12920-017-0271-4
关键词: Germline MutationLynch SyndromePathogenic VariantCancer PredispositionHereditary Cancer Syndrome
原始语种摘要: The growing number of Next Generation Sequencing (NGS) tests is transforming the routine clinical diagnosis of hereditary cancers. Identifying whether a cancer is the result of an underlying disease-causing mutation in a cancer predisposition gene is not only diagnostic for a cancer predisposition syndrome, but also has significant clinical implications in the clinical management of patients and their families.
全文获取路径: Springer Nature  (合作)
影响因子:3.466 (2012)

  • predisposition 素质
  • diagnostic 诊断的
  • concurrent 并发的
  • cancer 癌症
  • oncology 肿瘤学
  • hereditary 遗传性
  • tumor 肿胀
  • platform 台地
  • Cancer 巨蟹座
  • molecular 分子的